rs6061243

This is a synonymous variant in the GATA5 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
7 submitters2 publications

Congenital heart defects, multiple types, 5; not specified

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Research that mentions this SNP (1)

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Epigenetic and genetic variation in GATA5 is associated with gastric disease risk
AssociationN=289Sobota RS et al.(2016)· Human Genetics

A discovery and replication study of 130 and 159 Colombian patients examining genetic and epigenetic variation in GATA5 associated with gastric disease progression. Two synonymous SNPs in GATA5 (rs6061243 and rs6587239) were significantly associated with histopathology scores in dominant-effect models (p = 2.63×10⁻⁷ and 7.97×10⁻⁷, respectively, β = -0.86 and -0.82) and replicated in additive/dominant models. GATA5 promoter methylation was independently associated with disease progression (p = 0.001), and a significant SNP-by-methylation interaction indicated non-linear combined effects on gastric lesion severity.

Traits studied:Atrophic gastritisDysplasiaGastric cancerGastric disease progressionGastritisIntestinal metaplasia
PubMedDOIMetascience Observatory

About GATA5

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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